Rare and Orphan Diseases

Host: Janet Wright, MD

Guest: Scott Sharkey, MD

Takotsubo, or stress-induced cardiomyopathy (also known as 'broken heart syndrome'), was first recognized in Japan in the 1990s. Acute emotional or physical stress trigger the condition, which mimics the symptoms of a myocardial infarction (or MI). How can physicians differentiate between stress-induced cardiomyopathy and a more conventional MI, and how is stress-induced cardiomyopathy treated? What characteristics might make a patient more susceptible to developing this condition? Our guest is Dr. Scott Sharkey, senior consulting cardiologist at Minneapolis Heart Institute and director of the Takotsubo cardiomyopathy research program at the Minneapolis Heart Institute Foundation in Minnesota, shares some of the key diagnostic tests for differentiating between stress-induced cardiomyopathy and conventional MI. How common is this condition, and how can we limit the effects of stress-induced cardiomyopathy? Dr. Janet Wright hosts.

Produced in Cooperation with

Host: Bruce Bloom, DDS, JD

Guest: Charles Mullighan, MBBS, MSc, MD

How does understanding the genetics of rare disease help us understand other pressing pediatric problems? Dr. Charles Mullighan is assistant member of the faculty, pathology department, St. Jude Children's Research Hospital. He joins Dr. Bruce Bloom to discuss the genetics of acute lymphoblastic leukemia.

Host: Anthony Alessi, MD

Guest: James Sejvar, MD

How is the CDC monitoring neurological complications from the H1N1 vaccine as it relates to the risk of Guillain-Barre syndrome? Dr. James Sejvar, neuroepidemiologist in the division of viral and rickettsial diseases at the National Center for Infectious Diseases and the Center for Disease Control and Prevention, outlines for host Dr. Anthony Alessi the historical association between swine flu vaccination and Guillain-Barre syndrome.

Host: Michael Greenberg, MD

Guest: Anne Louise Oaklander, MD, PhD

How is complex regional pain syndrome (CRPS) distinguished from chronic or phantom limb pain? Can something as simple as a fracture or blood drawing trigger this condition? Dr. Anne-Louise Oaklander, associate professor of neurology at Harvard Medical School, joins host Dr. Michael Greenberg to discuss the intricacies of neuropathic pain. Since CRPS is rare, at what point should a physician suspect CRPS, and can this condition be treated?

Host: Michael Greenberg, MD

Guest: Anne Louise Oaklander, MD, PhD

An HIV-positive patient developed shingles. After the shingles healed, this patient began experiencing a very severe unremitting itch, which caused her to scratch through her own skull while sleeping one night. How is this possible, and what are the mechanics of itch that would allow a patient to feel no pain from scratching? Dr. Anne Louise Oaklander, associate professor of neurology at Harvard Medical School, reveals the pathophysiology of neurological itch. Is itch really just low-level firing of pain neurons, or is itch entirely distinct? Dr. Michael Greenberg hosts.

Host: Ketan Sheth, MD, MBA

Guest: William Lumry, MD

Hereditary angioedema is relatively rare and is often misdiagnosed as an allergic reaction to medication or food. What symptoms are helpful differentiating points for making an accurate hereditary angioedema diagnosis? Dr. William Lumry, clinical professor of internal medicine at the University of Texas Southwestern Medical School, outlines the types of hereditary angioedema, factors which can contribute to an acute attack, and therapies to prevent or treat patients with this condition. Dr. Ketan Sheth hosts.

Host: Bruce Bloom, DDS, JD

Guest: Eamonn R. Maher, MD

Guest: John Solly, PhD

Skin lesions, pneumothorax and kidney tumors? Is it Birt-Hogg-Dubé Syndrome? Described in the late 1970s, Birt-Hogg-Dubé was very difficult to recognize until recent molecular genetic testing made the diagnosis of this orphan disease more accurate. What is this disease? What systems does it affect? How do we treat it and what is the hope for the future? Join host Dr. Bruce Bloom and his guests Dr. Eamonn Maher, professor of medical genetics and department head of medical and molecular genetics at the University of Birmingham in the UK, and John Solly, director of the Myrovlytis Trust, a UK charity dedicated to the promotion of research into rare genetic disorders.

Host: Bruce Bloom, DDS, JD

Guest: John Solly, PhD

The worldwide effort to find cures for rare disease is often the work of small organizations such as the the Myrovlytis Trust, a not-for-profit organization in Great Britain dedicated to finding treatments and cures for rare diseases. John Solly, charity manager for the Myrovlytis Trust, talks with host Dr. Bruce Bloom, the rationale for focusing large dollars on diseases affecting a small population and how the Trust is approaching the search for a cure to their first target disease, Birt-Hogg-Dubé Syndrome.

Host: Bruce Bloom, DDS, JD

Guest: David J. Kuter, MD

New drug therapies have just become available for the rare disease Idiopathic Thrombocytopenic Purpura or ITP. Join our guest Dr. David J. Kuter, director of hematology, at Massachusetts General Hospital in Boston to explain the development of romiplostim and other ITP drugs and what clinical impact they are having. Hosted by Dr. Bruce Bloom

Host: Mark Nolan Hill, MD

Guest: Randi Hagerman, MD

Diagnosis of the genetic disorder Fragile X syndrome can be devastating for our young patients and their families, knowing that both the patient and their elders can be affected by this condition. Should we expand current screening measures for Fragile X? As clinicians, how do we guide patients and their families through this process of understanding their diagnosis? Dr. Randi Hagerman, professor and endowed chair of Fragile X research, and medical director of the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at the University of California, Davis School of Medicine, joins host Dr. Mark Nolan Hill to talk about the nuances of this genetic condition.